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factor IX gene mutation
Indications:
- evaluation of hemophilia B
Clinical significance:
- F9 gene mutations are associated with hemophilia B
Specimen:
1) whole blood (ACD or EDTA)
2) store whole blood at 4 degrees C
Notes:
- 1/3 of cases result from a point mutation in the gene for factor IX.
Related
coagulation factor IX; Christmas factor; plasma thromboplastin component; PTC; contains: coagulation factor IXa light chain; coagulation factor IXa heavy chain (F9)
hemophilia B; factor IX deficiency ; Christmas disease
General
gene mutation testing; gene mutation analysis
References
- Clinical Guide to Laboratory Tests, 3rd ed. Teitz ed.,
W.B. Saunders, 1995
- Loinc